Cardiovascular diseaseA reproducible evidence stack for inherited cardiomyopathy
From heterogeneous variant annotations to a testable cardiomyocyte-state hypothesis.
View case study
Rare disease computational biology
Rare variants.Clearer disease biology.
We connect genomic variation to cell states, phenotypes, and testable therapeutic hypotheses.
One disease mechanism, tested from four directions.
We build evidence that can survive a new dataset, a changed parameter, and a skeptical reader.
Variant to phenotype
Connect variant consequence to structured clinical observations without collapsing uncertainty.
Single-cell context
Locate disease mechanisms in the cell types and states where they become biologically coherent.
Phenotype ontology
Treat phenotype representation as a tested, versioned part of the analytical model.
Therapeutic hypotheses
Translate convergent evidence into falsifiable intervention logic and experimental priorities.
Featured study
Convergent phenotype modules across neurodevelopmental genes
Testing whether distinct rare-disease genes converge on shared developmental programs.
- Question
- Do genes linked to overlapping neurodevelopmental phenotypes converge in the same developmental cell programs?
- Study type
- Cross-atlas methods demonstration
From association to an experiment worth running.
Every REELD hypothesis carries its evidence path, competing explanations, and conditions for failure.
See our methodsVariant
Cell state
Phenotype
Hypothesis
ReproducibilityIndependent references and sensitivity tests.
ProvenanceVersioned inputs and auditable transformations.
FalsifiabilityPredictions paired with ways they can fail.
Case studies
See how the framework behaves when the evidence is incomplete, heterogeneous, and sensitive to context.
Cardiovascular diseaseNeurodevelopmentFinding a developmental window in epilepsy genetics
Using cortical atlases to locate when a phenotype-linked gene module is most coherent.
View case studyCritical review is part of the research.
Our editorials examine the assumptions that decide whether a computational result can travel.
All editorialsREELD Editorial
Reproducibility is a threshold, not a slogan
A mechanism that disappears under a reasonable alternate pipeline is not ready to anchor a therapeutic hypothesis.
18 min readMethods Editorial
A phenotype ontology is part of the model
Terms, ancestors, and information content shape the answer. They belong in the methods, not in a footnote.
16 min readData Stewardship Editorial
Public data deserves primary-evidence discipline
Secondary analysis is not second-class science, but it must respect cohort design, provenance, and consent boundaries.
19 min readBuilt on our own research, engaged with leading campuses.
Our analyses draw on our own research and findings, alongside engagement with investigators and scholarship at leading research campuses.
How we collaborateStanford University
MIT
The University of Texas
Broad Institute
Harvard Medical School
UC San Diego